18(top 2%)
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1.0K(top 2%)
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12(top 2%)
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467
citing journals

Top Articles

#TitleJournalYearCitations
1Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statementNature Reviews Endocrinology2018388
2High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesAmerican Journal of Human Genetics2017337
3The natural history of classic galactosemia: lessons from the GalNet registryOrphanet Journal of Rare Diseases201984
4Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaAmerican Journal of Human Genetics201851
5A mechanistic framework for cardiometabolic and coronary artery diseasesAmerican Journal of Human Genetics202251
6Fertility in adult women with classic galactosemia and primary ovarian insufficiencyFertility and Sterility201742
7Can untreated PKU patients escape from intellectual disability? A systematic reviewOrphanet Journal of Rare Diseases201836
8Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismAmerican Journal of Human Genetics201932
9Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyMolecular Syndromology201630
10De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationNature Genetics201828
11De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureEuropean Journal of Human Genetics202027
12POLRMT mutations impair mitochondrial transcription causing neurological diseaseNature Communications202121
13European Headache Federation (EHF) consensus on the definition of effective treatment of a migraine attack and of triptan failureJournal of Headache and Pain202220
14COVID‐19 vaccination hesitancy among people with chronic neurological disorders: A position paperEuropean Journal of Neurology202213
15Integrative Prioritization of Causal Genes for Coronary Artery DiseaseCirculation Genomic and Precision Medicine202211
16Adherence to osteoporosis medicines in Estonia—a comprehensive 15-year retrospective prescriptions database studyArchives of Osteoporosis20177
17Maternal Pyelonephritis as a Potential Cause of Perinatal Periventricular Venous Infarction in Term-Born ChildrenJournal of Child Neurology20223
18Food choices, physical activity and metabolic health in obese patientsPapers on Anthropology20190